Varaico: Literature-Extracted Genetic Variants

Gene:CFH
Variant:p.S1191L
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CFH

NM_000186.4:p.S1191L

Associated Papers

Comprehensive genetic analysis and genotype-phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome.

Ni J et al.

Pediatric Nephrology (berlin, Germany), 2025

Kidney Transplantation in Patients With aHUS: A Comparison of Eculizumab Prophylaxis Versus Rescue Therapy.

Duineveld C et al.

Transplantation, 2025

39049128 (PubMed )
Supplement: tpa-109-511-s001.pdf

Shiga toxin-producing Escherichia coli infection as a precipitating factor for atypical hemolytic-uremic syndrome.

Mortari G et al.

Pediatric Nephrology (berlin, Germany), 2025

C3d-targeted complement inhibitors to correct complement dysregulation in aHUS patients.

Guaschino V et al.

Frontiers in Immunology, 2025

Late Onset Thrombotic Microangiopathy in Kidney Transplants; Poor Outcome Despite Eculizumab Treatment.

Glover EK et al.

Transplant International : Official Journal of the European Society for Organ Transplantation, 2025

41368132 (PubMed )
Supplement: Table1.xlsx › Data

Analysis of Complement Factor H gene polymorphisms and their association with clinical manifestations ofleptospirosis.

Santiesteban-Lores LE et al.

Immunogenetics, 2024

Anti-C5 monoclonal antibody treatment showing pathological resolution of complement-mediated atypical hemolytic uremic syndrome: a case report.

Kurihara S et al.

Bmc Nephrology, 2024

Ex vivo C5b-9 Deposition Test to Monitor Complement Activity in Clinical and Subclinical Atypical Hemolytic Uremic Syndrome and in Transplantation-Associated Thrombotic Microangiopathy.

Martin M et al.

Kidney International Reports, 2024

The human factor H protein family - an update.

Sándor N et al.

Frontiers in Immunology, 2024

38410512 (PubMed )
Supplement: DataSheet_1.pdf

Atypical hemolytic uremic syndrome in the era of terminal complement inhibition: an observational cohort study.

Brocklebank V et al.

Blood, 2023

37369098 (PubMed )
Supplement: BLOOD_BLD-2022-018833R2-mmc1.pdf

Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.

Connaughton DM et al.

Journal of Molecular Medicine (berlin, Germany), 2023

Assessing the Impact of Prophylactic Eculizumab on Renal Graft Survival in Atypical Hemolytic Uremic Syndrome.

Glover EK et al.

Transplantation, 2023

36413152 (PubMed )
Supplement: tp-107-994-s001.xlsx › 2._Prophylactic_Eculizumab

HUS with mutations in CFH and STEC infection treated with eculizumab in a 4-year-old girl.

Galvez C et al.

Pediatric Nephrology (berlin, Germany), 2023

Complement gene variant effect on relapse of complement-mediated thrombotic microangiopathy after eculizumab cessation.

Acosta-Medina AA et al.

Blood Advances, 2023

35533258 (PubMed )
Supplement: BLOODA_ADV-2021-006416-mmc1.pdf

Genetic variability shapes the alternative pathway complement activity and predisposition to complement-related diseases.

Rodríguez de Córdoba S

Immunological Reviews, 2023

An ex vivo test to investigate genetic factors conferring susceptibility to atypical haemolytic uremic syndrome.

Gastoldi S et al.

Frontiers in Immunology, 2023

Genetic investigation of Nordic patients with complement-mediated kidney diseases.

Rydberg V et al.

Frontiers in Immunology, 2023

Recurrent microangiopathic hemolysis after recovery from complement-mediated hemolytic uremia syndrome during chemotherapy for a CFH-mutated patient with T-lymphoblastic lymphoma.

Lee FW et al.

International Journal of Hematology, 2022

Early graft loss due to acute thrombotic microangiopathy accompanied by complement gene variants in living-related kidney transplantation: case series report.

Wu Q et al.

Bmc Nephrology, 2022

Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy.

Haydock L et al.

Journal of Molecular Medicine (berlin, Germany), 2022

C5a and C5aR1 are key drivers of microvascular platelet aggregation in clinical entities spanning from aHUS to COVID-19.

Aiello S et al.

Blood Advances, 2022

Functional characterization of 105 factor H variants associated with aHUS: lessons for variant classification.

Martín Merinero H et al.

Blood, 2021

Clinical characterization and identification of rare genetic variants in atypical hemolytic uremic syndrome: A Swedish retrospective observational study.

Åkesson A et al.

Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2021

Familial Atypical Hemolytic Uremic Syndrome with Positive p.S1191L (c.3572C>T) Mutation on the CFH Gene: A Single-center Experience.

Ersoy Dursun F et al.

Balkan Journal of Medical Genetics : Bjmg, 2021

Atypical hemolytic uremic syndrome in Brazil: clinical presentation, genetic findings and outcomes of a case series in adults and children treated with eculizumab.

Palma LMP et al.

Clinical Kidney Journal, 2021

Sex Differences in Clinical Presentation and Outcomes among Patients with Complement-Gene-Variant-Mediated Thrombotic Microangiopathy.

Aigner C et al.

Journal of Clinical Medicine, 2020

32244370 (PubMed )
Supplement: jcm-09-00964-s001.pdf

Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.

Tseng MH et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019

Pathogenesis of Atypical Hemolytic Uremic Syndrome.

Yoshida Y et al.

Journal of Atherosclerosis and Thrombosis, 2019

Biophysical analysis of sialic acid recognition by the complement regulator Factor H.

Schmidt CQ et al.

Glycobiology, 2018

Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration.

Geerlings MJ et al.

Clinical Genetics, 2018

Reversal of threatening blindness after initiation of eculizumab in Purtscher-like retinopathy secondary to atypical hemolytic uremic syndrome.

Ramos de Carvalho JE et al.

International Ophthalmology, 2018

Kidney Transplantation in Patients with Atypical Hemolytic Uremic Syndrome due to Complement Factor H Deficiency: Impact of Liver Transplantation.

Kim S et al.

Journal of Korean Medical Science, 2018

Diseases of complement dysregulation-an overview.

Wong EKS et al.

Seminars in Immunopathology, 2018

Midterm Outcomes of 12 Renal Transplant Recipients Treated With Eculizumab to Prevent Atypical Hemolytic Syndrome Recurrence.

Levi C et al.

Transplantation, 2017

Disease-linked mutations in factor H reveal pivotal role of cofactor activity in self-surface-selective regulation of complement activation.

Kerr H et al.

The Journal of Biological Chemistry, 2017

Complement Activation Induces Neutrophil Adhesion and Neutrophil-Platelet Aggregate Formation on Vascular Endothelial Cells.

Riedl M et al.

Kidney International Reports, 2017

Disturbed sialic acid recognition on endothelial cells and platelets in complement attack causes atypical hemolytic uremic syndrome.

Hyvärinen S et al.

Blood, 2016

Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations.

de Córdoba SR

Immunobiology, 2016

A De Novo Deletion in the Regulators of Complement Activation Cluster Producing a Hybrid Complement Factor H/Complement Factor H-Related 3 Gene in Atypical Hemolytic Uremic Syndrome.

Challis RC et al.

Journal of the American Society of Nephrology : Jasn, 2016

Liver transplantation for aHUS: still needed in the eculizumab era?

Coppo R et al.

Pediatric Nephrology (berlin, Germany), 2016

High-Throughput Genetic Testing for Thrombotic Microangiopathies and C3 Glomerulopathies.

Bu F et al.

Journal of the American Society of Nephrology : Jasn, 2016

Genetic analysis and functional characterization of novel mutations in a series of patients with atypical hemolytic uremic syndrome.

Szarvas N et al.

Molecular Immunology, 2016

Eculizumab is a safe and effective treatment in pediatric patients with atypical hemolytic uremic syndrome.

Greenbaum LA et al.

Kidney International, 2016

New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome.

Lopes D et al.

Clinical Kidney Journal, 2015

Complement activation patterns in atypical haemolytic uraemic syndrome during acute phase and in remission.

Volokhina EB et al.

Clinical and Experimental Immunology, 2015

Discontinuation of eculizumab treatment in atypical hemolytic uremic syndrome: an update.

Ardissino G et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2015

Atypical hemolytic uremic syndrome: Korean pediatric series.

Lee JM et al.

Pediatrics International : Official Journal of the Japan Pediatric Society, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."